Publications by Dr Marta Bertoli - ePrints

Browsing publications by Dr Marta Bertoli.

Newcastle Authors	Title	Year
Dr Marta Bertoli	Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences	2024
Dr Marta Bertoli	Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design	2024
Dr Marta Bertoli Dr Helen Griffin Professor Sophie Hambleton Professor Neil Rajan Ruxandra Neatu et al.	Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.	2024
Dr Anna Sarkozy Dr Marta Bertoli Professor Volker Straub Emerita Professor Katherine Bushby	Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period	2017
Dr Ana Topf Dr Jelena Nikodinovic Glumac Dr Marta Bertoli Dr Katherine Johnson Lauren Phillips et al.	A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort	2016
Dr Katherine Johnson Dr Marta Bertoli Lauren Phillips Dr Ana Topf Professor Volker Straub et al.	Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations	2016
Lauren Phillips Dr Ana Topf Dr Katherine Johnson Dr Marta Bertoli Professor Volker Straub et al.	Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing	2016
Dr Katherine Johnson Dr Marta Bertoli Lauren Phillips Dr Ana Topf Professor Volker Straub et al.	The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin	2016
Professor Volker Straub Dr Marta Bertoli	Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?	2016
Dr Marta Bertoli Dr Ana Topf Dr Lizzie Harris Dr Steven Laval Dr Anna Sarkozy et al.	A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism	2015
Dr Anna Sarkozy Dr Marta Bertoli Dr John Hudson Emerita Professor Katherine Bushby	Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period	2015
Professor Volker Straub Olav Veldhuizen Dr Marta Bertoli Dr Michelle Eagle	Consortium for Products Across Europe in Duchenne Muscular Dystrophy (SCOPE-DMD)	2015
Dr Anna Sarkozy Dr Rita Barresi Dr Marta Bertoli Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies	2015
Dr Timothy Walls Dr Anna Sarkozy Dr Marta Bertoli Dr Andrew Schaefer Emerita Professor Katherine Bushby et al.	Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies	2015